Canonical Allele Identifier: CA6892458
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132638071_132638072del , CM000674.2:g.132638071_132638072del GRCh38
NC_000012.11:g.133214657_133214658del , CM000674.1:g.133214657_133214658del GRCh37
NC_000012.10:g.131724730_131724731del NCBI36
NG_033840.1:g.54454_54455del , LRG_789:g.54454_54455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000416953.3:n.3791_3792del
ENST00000434528.5:c.1159_1160del ENSP00000500921.1:n.1159_1160del
ENST00000544870.6:c.3294_3295del ENSP00000479927.2:n.3294_3295del
ENST00000699981.1:n.3275_3276del
ENST00000699982.1:c.5475_5476del
ENST00000699983.1:c.6179_6180del
ENST00000699984.1:c.5475_5476del
ENST00000320574.10:c.5621_5622del MANE Select ENSP00000322570.5:p.Cys1874TyrfsTer?
ENST00000434528.4:c.1159_1160del ENSP00000500921.1:n.1159_1160del
ENST00000672002.1:c.3294_3295del ENSP00000500233.1:n.3294_3295del
ENST00000672742.1:c.*5827_*5828del ENSP00000500279.1:n.*5827_*5828del
ENST00000320574.9:c.5621_5622del ENSP00000322570.5:p.Cys1874TyrfsTer?
ENST00000434528.3:n.604_605del
ENST00000535270.5:c.5540_5541del ENSP00000445753.1:p.Cys1847TyrfsTer?
ENST00000537064.5:c.*5372_*5373del ENSP00000442578.1:n.*5372_*5373del
ENST00000541213.5:n.1099_1100del
NM_006231.3:c.5621_5622del , LRG_789t1:c.5621_5622del NP_006222.2:p.Cys1874TyrfsTer?
XM_011534795.1:c.5621_5622del XP_011533097.1:p.Cys1874TyrfsTer?
XM_011534796.1:c.5492_5493del XP_011533098.1:p.Cys1831TyrfsTer?
XM_011534797.1:c.4700_4701del XP_011533099.1:p.Cys1567TyrfsTer?
XM_011534798.1:c.4283_4284del XP_011533100.1:p.Cys1428TyrfsTer?
XM_011534802.1:c.2609_2610del XP_011533104.1:p.Cys870TyrfsTer?
XM_011534795.3:c.5621_5622del XP_011533097.1:p.Cys1874TyrfsTer?
XM_011534797.3:c.4700_4701del XP_011533099.1:p.Cys1567TyrfsTer?
XM_011534802.3:c.2609_2610del XP_011533104.1:p.Cys870TyrfsTer?
XR_002957338.1:n.6454_6455del
XR_002957339.1:n.6167_6168del
NM_006231.4:c.5621_5622del MANE Select NP_006222.2:p.Cys1874TyrfsTer?